title: Association study between nonsense polymorphism (rs2039381, Gln71Stop) of interferon-ε and susceptibility to vitiligo in Korean population.
abstract: Interferons (IFNs) are related to autoimmune responses. IFN-epsilon (IFNE) is included in IFN family, and may modulate immunological functions. Inflammation modulating functions of IFNE may be related with the pathophysiology of vitiligo. To investigate the association of nonsense polymorphism (rs2039381, Gln71Stop) of interferon-ε (IFNE) and susceptibility to vitiligo, we conducted a case-control association study in 265 non-segmental vitiligo (NSV) patients and 320 healthy controls. The nonsense single nucleotide polymorphism (SNP) (rs2039381, Gln71Stop) of IFNE was genotyped by direct sequencing. Multiple logistic regression models (log-additive, dominant, and recessive models) were applied to determine odds ratios (OR), 95% confidence interval (CI), and p values. The rs2039381 (Gln71Stop) of IFNE did not show significant differences between NSV patient group and control group. However, we found that in childhood onset NSV groups, the IFNE nonsense polymorphism (rs2039381, Gln71Stop) showed a significant association. There was significantly different distribution of nonsense polymorphism of rs2039381 (Gln71Stop) of IFNE between NSV patients (childhood <18 years) and control subjects. This study suggests that rs2039381 (Gln71Stop) polymorphism of IFNE may be related to onset time of vitiligo in NSV patients.
authors.affiliation: Department of Dermatology, School of Medicine, Kyung Hee University, Seoul, Republic of Korea.
authors.forename: Hee-Ryung
authors.initials: HR
authors.lastname: Cho
authors.forename: Su Kang
authors.initials: SK
authors.lastname: Kim
authors.forename: Hee-Kyeong
authors.initials: HK
authors.lastname: Lim
authors.forename: Hae
authors.initials: H
authors.lastname: Jeong Park
authors.forename: Joo-Ho
authors.initials: JH
authors.lastname: Chung
authors.forename: Mu-Hyoung
authors.initials: MH
authors.lastname: Lee
mesh_terms: D000328:Adult; D017668:Age of Onset; D016022:Case-Control Studies; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007372:Interferons / Q000235:genetics*; D007723:Korea; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D014820:Vitiligo / Q000453:epidemiology* / Q000235:genetics*; D055815:Young Adult
chemical_list: D018389:Codon, Nonsense; C524005:IFNE protein, human; D007372:Interferons